How many genetic disorders do we have left to discover?

Many human diseases have a genetic component. Some of these conditions are under investigation by researchers at or associated with the National Human Genome Research Institute (NHGRI). Below is a list of selected genetic, orphan and rare diseases. This list is by no means comprehensive. read more

Genetic disorders most often occur due to a genetic mutation resulting in a protein not forming correctly, but the thing is, not every genetic mutation is a bad thing. Plenty have no affect at all. The body at the molecular level just gets more and more complex. read more

Most treatment strategies for genetic disorders do not alter the underlying genetic mutation; however, a few disorders have been treated with gene therapy. This experimental technique involves changing a person's genes to prevent or treat a disease. read more

Genetic disorders can be caused by a mutation in one gene (monogenic disorder), by mutations in multiple genes (multifactorial inheritance disorder), by a combination of gene mutations and environmental factors, or by damage to chromosomes (changes in the number or structure of entire chromosomes, the structures that carry genes). read more